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myopathy due to calsequestrin and SERCA1 protein overload (VMCQA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy due to calsequestrin and SERCA1 protein overload

MONDO:0014546

Also known as:VMCQAmyopathy, vacuolar, with CASQ1 aggregates

Overview

Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.

GeneticsAutosomal dominant · CASQ1 (chr 1)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Muscle fiber calsequestrin 1-containing inclusion bodies; and very common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration). 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Muscle spasm, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CASQ1 encodes calsequestrin 1 (396 aa). Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Highest expression in Muscle Skeletal (833.7 TPM) and Brain Frontal Cortex BA9 (20.1 TPM).

Myopathy due to calsequestrin and SERCA1 protein overload is associated with mutations in the CASQ1 gene on chromosome 1.

The CASQ1 protein participates in RYR tetramers transport Ca2+ from sarcoplasmic reticulum lumen to cytosol pathway.

CASQ1 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for CASQ1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for myopathy due to calsequestrin and SERCA1 protein overload.

4 publications have been identified in PubMed for myopathy due to calsequestrin and SERCA1 protein overload. Research spans Case Report / Case Series (75%) and Basic Science / Preclinical (25%).

Recent Publications

Xia X (2026). [PMID: 41699400](https://pubmed.ncbi.nlm.nih.gov/41699400/). *J Hum Genet*. [Case Report / Case Series]
Laarne M (2025). [PMID: 41313434](https://pubmed.ncbi.nlm.nih.gov/41313434/). *J Neurol*. [Case Report / Case Series]
Guo X (2024). [PMID: 38818562](https://pubmed.ncbi.nlm.nih.gov/38818562/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Morales ED (2024). [PMID: 39402529](https://pubmed.ncbi.nlm.nih.gov/39402529/). *BMC Musculoskelet Disord*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616231

Orphanet

European rare disease database

Orphanet:88635

GARD

Genetic and Rare Diseases Info Center

GARD:16770

Questions for Your Care Team

→Should I pursue genetic testing for CASQ1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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myopathy due to calsequestrin and SERCA1 protein overload

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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